Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

10.1186/s12881-017-0506-4

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Main Authors:	Ajmal, M, Mir, A, Wahid, S, Khor, C.C, Foo, J.N, Siddiqi, S, Kauser, M, Malik, S.A, Nasir, M
Other Authors:	BIOCHEMISTRY
Format:	Article
Published:	2020
Subjects:	DNA proton transporting adenosine triphosphate synthase TCIRG1 protein, human Article autosomal recessive disorder autosomal recessive osteopetrosis bioinformatics child clinical article complex formation computer model controlled study exon frameshift mutation gene gene deletion genetic association genetic code genetic counseling genetic variation homozygosity human infant male mutational analysis osteolysis osteoporosis Pakistani pathogenesis phenotype protein assembly protein structure Sanger sequencing single nucleotide polymorphism structure activity relation structure analysis TCIRG1 gene V ATPase a3 gene Albers Schoenberg disease amino acid sequence computer simulation diagnostic imaging dna mutational analysis genetics genotype homozygote metabolism molecular docking mutation Pakistan pathophysiology physiology preschool child Amino Acid Sequence Bone Resorption Child, Preschool Computer Simulation DNA Mutational Analysis Exons Genotype Homozygote Humans Infant Molecular Docking Simulation Mutation Osteopetrosis Sequence Deletion Vacuolar Proton-Translocating ATPases
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/181231
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1812312024-11-14T01:37:58Z Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family Ajmal, M Mir, A Wahid, S Khor, C.C Foo, J.N Siddiqi, S Kauser, M Malik, S.A Nasir, M BIOCHEMISTRY DNA proton transporting adenosine triphosphate synthase proton transporting adenosine triphosphate synthase TCIRG1 protein, human Article autosomal recessive disorder autosomal recessive osteopetrosis bioinformatics child clinical article complex formation computer model controlled study exon frameshift mutation gene gene deletion genetic association genetic code genetic counseling genetic variation homozygosity human infant male mutational analysis osteolysis osteoporosis Pakistani pathogenesis phenotype protein assembly protein structure Sanger sequencing single nucleotide polymorphism structure activity relation structure analysis TCIRG1 gene V ATPase a3 gene Albers Schoenberg disease amino acid sequence computer simulation diagnostic imaging dna mutational analysis genetics genotype homozygote metabolism molecular docking mutation Pakistan pathophysiology physiology preschool child Amino Acid Sequence Bone Resorption Child, Preschool Computer Simulation DNA Mutational Analysis Exons Genotype Homozygote Humans Infant Molecular Docking Simulation Mutation Osteopetrosis Pakistan Sequence Deletion Vacuolar Proton-Translocating ATPases 10.1186/s12881-017-0506-4 BMC Medical Genetics 18 1 148 2020-10-27T10:17:27Z 2020-10-27T10:17:27Z 2017 Article Ajmal, M, Mir, A, Wahid, S, Khor, C.C, Foo, J.N, Siddiqi, S, Kauser, M, Malik, S.A, Nasir, M (2017). Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family. BMC Medical Genetics 18 (1) : 148. ScholarBank@NUS Repository. https://doi.org/10.1186/s12881-017-0506-4 14712350 https://scholarbank.nus.edu.sg/handle/10635/181231 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	DNA proton transporting adenosine triphosphate synthase proton transporting adenosine triphosphate synthase TCIRG1 protein, human Article autosomal recessive disorder autosomal recessive osteopetrosis bioinformatics child clinical article complex formation computer model controlled study exon frameshift mutation gene gene deletion genetic association genetic code genetic counseling genetic variation homozygosity human infant male mutational analysis osteolysis osteoporosis Pakistani pathogenesis phenotype protein assembly protein structure Sanger sequencing single nucleotide polymorphism structure activity relation structure analysis TCIRG1 gene V ATPase a3 gene Albers Schoenberg disease amino acid sequence computer simulation diagnostic imaging dna mutational analysis genetics genotype homozygote metabolism molecular docking mutation Pakistan pathophysiology physiology preschool child Amino Acid Sequence Bone Resorption Child, Preschool Computer Simulation DNA Mutational Analysis Exons Genotype Homozygote Humans Infant Molecular Docking Simulation Mutation Osteopetrosis Pakistan Sequence Deletion Vacuolar Proton-Translocating ATPases
spellingShingle	DNA proton transporting adenosine triphosphate synthase proton transporting adenosine triphosphate synthase TCIRG1 protein, human Article autosomal recessive disorder autosomal recessive osteopetrosis bioinformatics child clinical article complex formation computer model controlled study exon frameshift mutation gene gene deletion genetic association genetic code genetic counseling genetic variation homozygosity human infant male mutational analysis osteolysis osteoporosis Pakistani pathogenesis phenotype protein assembly protein structure Sanger sequencing single nucleotide polymorphism structure activity relation structure analysis TCIRG1 gene V ATPase a3 gene Albers Schoenberg disease amino acid sequence computer simulation diagnostic imaging dna mutational analysis genetics genotype homozygote metabolism molecular docking mutation Pakistan pathophysiology physiology preschool child Amino Acid Sequence Bone Resorption Child, Preschool Computer Simulation DNA Mutational Analysis Exons Genotype Homozygote Humans Infant Molecular Docking Simulation Mutation Osteopetrosis Pakistan Sequence Deletion Vacuolar Proton-Translocating ATPases Ajmal, M Mir, A Wahid, S Khor, C.C Foo, J.N Siddiqi, S Kauser, M Malik, S.A Nasir, M Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
description	10.1186/s12881-017-0506-4
author2	BIOCHEMISTRY
author_facet	BIOCHEMISTRY Ajmal, M Mir, A Wahid, S Khor, C.C Foo, J.N Siddiqi, S Kauser, M Malik, S.A Nasir, M
format	Article
author	Ajmal, M Mir, A Wahid, S Khor, C.C Foo, J.N Siddiqi, S Kauser, M Malik, S.A Nasir, M
author_sort	Ajmal, M
title	Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
title_short	Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
title_full	Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
title_fullStr	Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
title_full_unstemmed	Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
title_sort	identification and in silico characterization of a novel p.p208pfsx1 mutation in v-atpase a3 subunit associated with autosomal recessive osteopetrosis in a pakistani family
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/181231
_version_	1821222331532443648

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

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